Nuclear pore complexes (NPCs) are used for transporting macromolecules between the cytoplasm and the nucleus. NPCs consist of multiple copies of 30 distinct proteins (nucleoporins), which assemble into biochemically-separable subcomplexes. The protein encoded by this gene is part of a subcomplex (Nup107-160) that is required for proper NPC function as well as for normal kinetoc... See more...

Aliases for NUP37 Gene

Aliases for NUP37 Gene

  • Nucleoporin 37 2 3 5
  • Nup107-160 Subcomplex Subunit Nup37 3 4
  • Nucleoporin 37kDa 2 3
  • Nucleoporin Nup37 3 4
  • P37 3 4
  • FLJ22618 2
  • MGC5585 2
  • MCPH24 3
  • NUP37 5

External Ids for NUP37 Gene

Previous GeneCards Identifiers for NUP37 Gene

  • GC12M100971
  • GC12M100972
  • GC12M102467
  • GC12M099527

Summaries for NUP37 Gene

Entrez Gene Summary for NUP37 Gene

  • Nuclear pore complexes (NPCs) are used for transporting macromolecules between the cytoplasm and the nucleus. NPCs consist of multiple copies of 30 distinct proteins (nucleoporins), which assemble into biochemically-separable subcomplexes. The protein encoded by this gene is part of a subcomplex (Nup107-160) that is required for proper NPC function as well as for normal kinetochore-microtubule interaction and mitosis. [provided by RefSeq, Dec 2015]

GeneCards Summary for NUP37 Gene

NUP37 (Nucleoporin 37) is a Protein Coding gene. Diseases associated with NUP37 include Microcephaly 24, Primary, Autosomal Recessive and Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA.

UniProtKB/Swiss-Prot Summary for NUP37 Gene

  • Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUP37 Gene

Genomics for NUP37 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NUP37 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUP37 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUP37

Top Transcription factor binding sites by QIAGEN in the NUP37 gene promoter:
  • AML1a
  • C/EBPalpha
  • CUTL1
  • NF-AT
  • NF-AT1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for NUP37 Gene

Latest Assembly
chr12:102,073,103-102,120,131
(GRCh38/hg38)
Size:
47,029 bases
Orientation:
Minus strand

Previous Assembly
chr12:102,466,881-102,513,892
(GRCh37/hg19 by Entrez Gene)
Size:
47,012 bases
Orientation:
Minus strand

chr12:102,467,967-102,513,902
(GRCh37/hg19 by Ensembl)
Size:
45,936 bases
Orientation:
Minus strand

Genomic View for NUP37 Gene

Genes around NUP37 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUP37 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUP37 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUP37 Gene

Proteins for NUP37 Gene

  • Protein details for NUP37 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFH4-NUP37_HUMAN
    Recommended name:
    Nucleoporin Nup37
    Protein Accession:
    Q8NFH4
    Secondary Accessions:
    • Q9H644

    Protein attributes for NUP37 Gene

    Size:
    326 amino acids
    Molecular mass:
    36708 Da
    Quaternary structure:
    • Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex includes NUP160, NUP133, NUP107, NUP98, NUP85, NUP43, NUP37, SEH1 and SEC13.
    SequenceCaution:
    • Sequence=BAB15422.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NUP37 Gene

neXtProt entry for NUP37 Gene

Post-translational modifications for NUP37 Gene

  • Ubiquitination at Lys94, Lys114, and Lys186
  • Modification sites at PhosphoSitePlus

Other Protein References for NUP37 Gene

No data available for DME Specific Peptides for NUP37 Gene

Domains & Families for NUP37 Gene

Gene Families for NUP37 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Suggested Antigen Peptide Sequences for NUP37 Gene

GenScript: Design optimal peptide antigens:
  • Nup107-160 subcomplex subunit Nup37 (NUP37_HUMAN)
genes like me logo Genes that share domains with NUP37: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NUP37 Gene

Function for NUP37 Gene

Molecular function for NUP37 Gene

UniProtKB/Swiss-Prot Function:
Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation.

Phenotypes From GWAS Catalog for NUP37 Gene

Gene Ontology (GO) - Molecular Function for NUP37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15146057
genes like me logo Genes that share ontologies with NUP37: view
genes like me logo Genes that share phenotypes with NUP37: view

Human Phenotype Ontology for NUP37 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NUP37 Gene

MGI Knock Outs for NUP37:
  • Nup37 Nup37<tm1.1(KOMP)Vlcg>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP37

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NUP37 Gene

Localization for NUP37 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUP37 Gene

Chromosome, centromere, kinetochore. Nucleus, nuclear pore complex.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUP37 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
cytoskeleton 1
golgi apparatus 1
extracellular 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NUP37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 colocalizes_with kinetochore IEA,IDA 15146057
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005634 nucleus IEA,HDA 21630459
GO:0005635 nuclear envelope TAS --
genes like me logo Genes that share ontologies with NUP37: view

Pathways & Interactions for NUP37 Gene

PathCards logo

SuperPathways for NUP37 Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
.45
3 Cell Cycle, Mitotic
.60
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with NUP37: view

Gene Ontology (GO) - Biological Process for NUP37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006110 regulation of glycolytic process TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IEA --
genes like me logo Genes that share ontologies with NUP37: view

No data available for SIGNOR curated interactions for NUP37 Gene

Drugs & Compounds for NUP37 Gene

No Compound Related Data Available

Transcripts for NUP37 Gene

mRNA/cDNA for NUP37 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUP37

Alternative Splicing Database (ASD) splice patterns (SP) for NUP37 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: - -
SP2: - -
SP3:
SP4:

Relevant External Links for NUP37 Gene

GeneLoc Exon Structure for
NUP37

Expression for NUP37 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUP37 Gene

Protein differential expression in normal tissues from HIPED for NUP37 Gene

This gene is overexpressed in Serum (19.0) and Liver (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NUP37 Gene



Protein tissue co-expression partners for NUP37 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUP37

SOURCE GeneReport for Unigene cluster for NUP37 Gene:

Hs.444276

Evidence on tissue expression from TISSUES for NUP37 Gene

  • Intestine(4.2)
genes like me logo Genes that share expression patterns with NUP37: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NUP37 Gene

Orthologs for NUP37 Gene

This gene was present in the common ancestor of animals.

Orthologs for NUP37 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NUP37 29 30
  • 99.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NUP37 29 30
  • 93.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NUP37 29 30
  • 92.54 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nup37 29 16 30
  • 88.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nup37 29
  • 87.53 (n)
Oppossum
(Monodelphis domestica)
Mammalia NUP37 30
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NUP37 30
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NUP37 29 30
  • 78.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NUP37 30
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nup37 29
  • 71.78 (n)
Str.3208 29
Zebrafish
(Danio rerio)
Actinopterygii nup37 29 30
  • 65.85 (n)
OneToOne
Dr.16553 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011887 29
  • 43.79 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG11875 29 30
  • 42.96 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 32 (a)
OneToOne
Species where no ortholog for NUP37 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NUP37 Gene

ENSEMBL:
Gene Tree for NUP37 (if available)
TreeFam:
Gene Tree for NUP37 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NUP37: view image
Alliance of Genome Resources:
Additional Orthologs for NUP37

Paralogs for NUP37 Gene

No data available for Paralogs for NUP37 Gene

Variants for NUP37 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUP37 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1028291 Uncertain Significance: Microcephaly 24, primary, autosomal recessive 102,099,119(-) C/T
NM_024057.4(NUP37):c.436G>A (p.Asp146Asn)
MISSENSE
rs1309880692 Pathogenic: Microcephaly 24, primary, autosomal recessive 102,112,163(-) C/CA
NM_024057.4(NUP37):c.225dup (p.Asp76Ter)
NONSENSE
rs746341112 Likely Pathogenic: Microcephaly 24, primary, autosomal recessive 102,074,419(-) G/A
NM_024057.4(NUP37):c.916C>T (p.Arg306Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NUP37 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for NUP37 Gene

Residual Variation Intolerance Score: 55.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NUP37 Gene

Human Gene Mutation Database (HGMD)
NUP37
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUP37
Leiden Open Variation Database (LOVD)
NUP37

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NUP37 Gene

Disorders for NUP37 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NUP37 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
microcephaly 24, primary, autosomal recessive
  • mcph24
genetic steroid-resistant nephrotic syndrome
  • familial idiopathic nephrotic syndrome
microcephaly
  • microcephalus
familial atrial fibrillation
  • atfb
- elite association - COSMIC cancer census association via MalaCards
Search NUP37 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NUP37_HUMAN
  • Microcephaly 24, primary, autosomal recessive (MCPH24) [MIM:618179]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH24 patients additionally manifest mildly impaired intellectual development, cerebellar vermis hypoplasia, and fifth finger clinodactyly. {ECO:0000269 PubMed:30179222}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for NUP37

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NUP37: view

No data available for Genatlas for NUP37 Gene

Publications for NUP37 Gene

  1. Proteomic analysis of the mammalian nuclear pore complex. (PMID: 12196509) Cronshaw JM … Matunis MJ (The Journal of cell biology 2002) 2 3 4
  2. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. (PMID: 30179222) Braun DA … Hildebrandt F (The Journal of clinical investigation 2018) 4 72
  3. Identification of 15 loci influencing height in a Korean population. (PMID: 19893584) Kim JJ … Lee JK (Journal of human genetics 2010) 3 40
  4. Cell-cycle-dependent phosphorylation of the nuclear pore Nup107-160 subcomplex. (PMID: 17360435) Glavy JS … Chait BT (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4
  5. The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions. (PMID: 17363900) Zuccolo M … Doye V (The EMBO journal 2007) 3 4

Products for NUP37 Gene

Sources for NUP37 Gene